Incidental Mutation 'R0033:Celf1'
| ID |
15395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Celf1
|
| Ensembl Gene |
ENSMUSG00000005506 |
| Gene Name |
CUGBP, Elav-like family member 1 |
| Synonyms |
CUG-BP1, CUG-BP, D2Wsu101e, Brunol2, Cugbp1, 1600010O03Rik |
| MMRRC Submission |
038327-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.839)
|
| Stock # |
R0033 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
90770727-90849842 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 90831798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005643]
[ENSMUST00000068726]
[ENSMUST00000068747]
[ENSMUST00000111448]
[ENSMUST00000111449]
[ENSMUST00000111451]
[ENSMUST00000111452]
[ENSMUST00000111455]
[ENSMUST00000177642]
|
| AlphaFold |
P28659 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005643
|
| SMART Domains |
Protein: ENSMUSP00000005643
Gene: ENSMUSG00000005506
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
44 |
122 |
5.93e-17 |
SMART |
|
RRM
|
136 |
211 |
2.52e-20 |
SMART |
|
low complexity region
|
226 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
383 |
N/A |
INTRINSIC |
|
RRM
|
429 |
502 |
1.71e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068726
|
| SMART Domains |
Protein: ENSMUSP00000064323
Gene: ENSMUSG00000005506
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
95 |
5.93e-17 |
SMART |
|
RRM
|
109 |
184 |
2.52e-20 |
SMART |
|
low complexity region
|
199 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
357 |
N/A |
INTRINSIC |
|
RRM
|
403 |
476 |
1.71e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068747
|
| SMART Domains |
Protein: ENSMUSP00000070438
Gene: ENSMUSG00000005506
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
95 |
5.93e-17 |
SMART |
|
RRM
|
109 |
184 |
2.52e-20 |
SMART |
|
low complexity region
|
199 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
356 |
N/A |
INTRINSIC |
|
RRM
|
402 |
475 |
1.71e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111448
|
| SMART Domains |
Protein: ENSMUSP00000107075
Gene: ENSMUSG00000005506
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
95 |
5.93e-17 |
SMART |
|
RRM
|
109 |
184 |
2.52e-20 |
SMART |
|
low complexity region
|
199 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
279 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
353 |
N/A |
INTRINSIC |
|
RRM
|
399 |
472 |
1.71e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111449
|
| SMART Domains |
Protein: ENSMUSP00000107076
Gene: ENSMUSG00000005506
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
95 |
5.93e-17 |
SMART |
|
RRM
|
109 |
184 |
2.52e-20 |
SMART |
|
low complexity region
|
199 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
356 |
N/A |
INTRINSIC |
|
RRM
|
402 |
475 |
1.71e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111451
|
| SMART Domains |
Protein: ENSMUSP00000107078
Gene: ENSMUSG00000005506
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
95 |
5.93e-17 |
SMART |
|
RRM
|
109 |
184 |
2.52e-20 |
SMART |
|
low complexity region
|
199 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
356 |
N/A |
INTRINSIC |
|
RRM
|
402 |
475 |
1.71e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111452
|
| SMART Domains |
Protein: ENSMUSP00000107079
Gene: ENSMUSG00000005506
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
44 |
122 |
5.93e-17 |
SMART |
|
RRM
|
136 |
211 |
2.52e-20 |
SMART |
|
low complexity region
|
226 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
383 |
N/A |
INTRINSIC |
|
RRM
|
429 |
502 |
1.71e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111455
|
| SMART Domains |
Protein: ENSMUSP00000107082
Gene: ENSMUSG00000005506
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
44 |
122 |
5.93e-17 |
SMART |
|
RRM
|
136 |
211 |
2.52e-20 |
SMART |
|
low complexity region
|
226 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
383 |
N/A |
INTRINSIC |
|
RRM
|
429 |
502 |
1.71e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154442
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177642
|
| SMART Domains |
Protein: ENSMUSP00000136109
Gene: ENSMUSG00000005506
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
95 |
5.93e-17 |
SMART |
|
RRM
|
109 |
184 |
2.52e-20 |
SMART |
|
low complexity region
|
199 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
356 |
N/A |
INTRINSIC |
|
RRM
|
402 |
475 |
1.71e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127580
|
| Coding Region Coverage |
- 1x: 80.0%
- 3x: 71.7%
- 10x: 49.2%
- 20x: 29.7%
|
| Validation Efficiency |
96% (74/77) |
| MGI Phenotype |
PHENOTYPE: Homozygous disruption of this gene results in significant postnatal lethality, growth retardation, and impaired fertility in both sexes. Male infertility is caused by a blockage of spermiogenesis at stage 7 and increased germ cell apoptosis but is not fully penetrant. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agr3 |
C |
T |
12: 35,978,329 (GRCm39) |
T14M |
possibly damaging |
Het |
| Aldh9a1 |
T |
C |
1: 167,184,140 (GRCm39) |
S212P |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,898,397 (GRCm39) |
|
probably benign |
Het |
| Cdkn3 |
C |
A |
14: 47,006,329 (GRCm39) |
Y141* |
probably null |
Het |
| Ceacam12 |
T |
G |
7: 17,803,385 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,729,967 (GRCm39) |
S1780P |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,663,886 (GRCm39) |
I346V |
possibly damaging |
Het |
| Csf3r |
A |
G |
4: 125,925,677 (GRCm39) |
T151A |
probably benign |
Het |
| Ctss |
G |
A |
3: 95,452,888 (GRCm39) |
|
probably benign |
Het |
| Erp44 |
T |
C |
4: 48,241,289 (GRCm39) |
|
probably benign |
Het |
| Hibch |
A |
G |
1: 52,944,610 (GRCm39) |
K296R |
probably null |
Het |
| Katnip |
T |
G |
7: 125,360,999 (GRCm39) |
V103G |
possibly damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,912,259 (GRCm39) |
I208V |
probably benign |
Het |
| Lrrc8a |
G |
T |
2: 30,145,357 (GRCm39) |
C57F |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,583,504 (GRCm39) |
N435D |
possibly damaging |
Het |
| Myo16 |
A |
T |
8: 10,420,955 (GRCm39) |
Y265F |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,867,979 (GRCm39) |
|
probably benign |
Het |
| Nlrp12 |
A |
C |
7: 3,289,037 (GRCm39) |
S492A |
probably damaging |
Het |
| Pwwp2b |
A |
T |
7: 138,834,844 (GRCm39) |
D95V |
possibly damaging |
Het |
| Rarg |
T |
A |
15: 102,147,270 (GRCm39) |
I372F |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,079,983 (GRCm39) |
I1920T |
probably damaging |
Het |
| Sv2b |
A |
G |
7: 74,767,489 (GRCm39) |
F636L |
probably benign |
Het |
| Thra |
G |
A |
11: 98,655,178 (GRCm39) |
V353I |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,116,452 (GRCm39) |
|
probably benign |
Het |
| Tmx4 |
A |
T |
2: 134,442,918 (GRCm39) |
|
probably null |
Het |
| Tnfrsf12a |
A |
G |
17: 23,895,119 (GRCm39) |
|
probably null |
Het |
| Uba5 |
T |
A |
9: 103,931,347 (GRCm39) |
T241S |
probably benign |
Het |
| Zfp420 |
A |
G |
7: 29,573,987 (GRCm39) |
D69G |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,767,635 (GRCm39) |
I659N |
possibly damaging |
Het |
|
| Other mutations in Celf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01714:Celf1
|
APN |
2 |
90,839,552 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02126:Celf1
|
APN |
2 |
90,831,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02183:Celf1
|
APN |
2 |
90,831,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02350:Celf1
|
APN |
2 |
90,828,933 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02357:Celf1
|
APN |
2 |
90,828,933 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02402:Celf1
|
APN |
2 |
90,829,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02522:Celf1
|
APN |
2 |
90,839,646 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Colostrum
|
UTSW |
2 |
90,831,423 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Creamy
|
UTSW |
2 |
90,843,189 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0033:Celf1
|
UTSW |
2 |
90,831,798 (GRCm39) |
splice site |
probably benign |
|
|
R0147:Celf1
|
UTSW |
2 |
90,835,035 (GRCm39) |
splice site |
probably benign |
|
|
R2008:Celf1
|
UTSW |
2 |
90,840,753 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2132:Celf1
|
UTSW |
2 |
90,840,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3769:Celf1
|
UTSW |
2 |
90,828,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3845:Celf1
|
UTSW |
2 |
90,839,583 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3857:Celf1
|
UTSW |
2 |
90,843,086 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3858:Celf1
|
UTSW |
2 |
90,843,086 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5174:Celf1
|
UTSW |
2 |
90,831,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5287:Celf1
|
UTSW |
2 |
90,839,552 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6395:Celf1
|
UTSW |
2 |
90,834,203 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6993:Celf1
|
UTSW |
2 |
90,840,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7063:Celf1
|
UTSW |
2 |
90,843,189 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7242:Celf1
|
UTSW |
2 |
90,833,602 (GRCm39) |
nonsense |
probably null |
|
|
R7419:Celf1
|
UTSW |
2 |
90,833,588 (GRCm39) |
missense |
probably benign |
|
|
R7502:Celf1
|
UTSW |
2 |
90,835,100 (GRCm39) |
nonsense |
probably null |
|
|
R7921:Celf1
|
UTSW |
2 |
90,829,092 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7975:Celf1
|
UTSW |
2 |
90,831,423 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8708:Celf1
|
UTSW |
2 |
90,840,925 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8871:Celf1
|
UTSW |
2 |
90,840,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9164:Celf1
|
UTSW |
2 |
90,831,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Celf1
|
UTSW |
2 |
90,828,939 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1177:Celf1
|
UTSW |
2 |
90,835,050 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2012-12-17 |
Incidental Mutation